Neurofibromatosis type 1 (NF1)-related lung disease is a rare but increasingly recognised, high morbidity associated feature of the condition. We present a 48-year-old male patient with NF1, who was initially admitted for a subarachnoid haemorrhage requiring aneurysmal coil embolisation. During his recovery, he developed a left-sided pneumothorax requiring chest tube placement followed by concerns for re-expansion pulmonary oedema requiring intubation. Subsequently, the patient also developed a right-sided pneumothorax requiring additional chest tube placement but did not develop right-sided pulmonary oedema. During his hospitalisation, the patient also exemplified other important NF1-related pathophysiology including pheochromocytoma, cerebrovascular abnormalities and cardiovascular manifestations. Due to his multiple comorbidities and poor prognosis, we held a goals of care discussion with the patient’s mother, and with her agreement, the patient underwent compassionate withdrawal of artificial life support.
- genetic screening / counselling
- adrenal disorders
- respiratory medicine
- cardiovascular medicine
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Contributors KAN was involved in drafting the case report. ME, NMG and MT was involved in the clinical expertise in revising for important intellectual content. All authors contributed to the conception, acquisition of data and interpretation of data. All authors read and approved the final manuscript.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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